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While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the…

Machine Learning · Computer Science 2023-02-15 Wenting Ye , Xiang Liu , Tianwei Yue , Wenping Wang

High-throughput shotgun sequence data makes it possible in principle to accurately estimate population genetic parameters without confounding by SNP ascertainment bias. One such statistic of interest is the proportion of heterozygous sites…

Populations and Evolution · Quantitative Biology 2012-12-18 Katarzyna Bryc , Nick Patterson , David Reich

Pedigrees, or family trees, are graphs of family relationships that are used to study inheritance. A fundamental problem in computational biology is to find, for a pedigree with $n$ individuals genotyped at every site, a set of…

Data Structures and Algorithms · Computer Science 2016-02-16 Bonnie Kirkpatrick

Identifying measurable genetic indicators (or biomarkers) of a specific condition of a biological system is a key element of precision medicine. Indeed it allows to tailor diagnostic, prognostic and treatment choice to individual…

Machine Learning · Statistics 2016-12-16 Chloé-Agathe Azencott

After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…

Computational Complexity · Computer Science 2007-05-23 Gene Kim , MyungHo Kim

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

Methodology · Statistics 2012-01-30 Matt Silver , Giovanni Montana

Accurate diagnosis of disease often depends on the exhaustive examination of Whole Slide Images (WSI) at microscopic resolution. Efficient handling of these data-intensive images requires lossy compression techniques. This paper…

The identification of phenotypes within complex diseases or syndromes is a fundamental component of precision medicine, which aims to adapt healthcare to individual patient characteristics. Postoperative delirium (POD) is a complex…

Shadow detection in general photos is a nontrivial problem, due to the complexity of the real world. Though recent shadow detectors have already achieved remarkable performance on various benchmark data, their performance is still limited…

Computer Vision and Pattern Recognition · Computer Science 2024-09-06 Xiaowei Hu , Tianyu Wang , Chi-Wing Fu , Yitong Jiang , Qiong Wang , Pheng-Ann Heng

Gene-disease associations are fundamental for understanding disease etiology and developing effective interventions and treatments. Identifying genes not yet associated with a disease due to a lack of studies is a challenging task in which…

Machine Learning · Computer Science 2023-03-08 Paola Stolfi , Andrea Mastropietro , Giuseppe Pasculli , Paolo Tieri , Davide Vergni

We propose a method for depth estimation under different illumination conditions, i.e., day and night time. As photometry is uninformative in regions under low-illumination, we tackle the problem through a multi-sensor fusion approach,…

Computer Vision and Pattern Recognition · Computer Science 2024-05-28 Vadim Ezhov , Hyoungseob Park , Zhaoyang Zhang , Rishi Upadhyay , Howard Zhang , Chethan Chinder Chandrappa , Achuta Kadambi , Yunhao Ba , Julie Dorsey , Alex Wong

This paper presents an original ABC algorithm, "ABC Shadow", that can be applied to sample posterior densities that are continuously differentiable. The proposed method uses the ideas given by the auxiliary variable MH of (M\o ller and…

Statistics Theory · Mathematics 2016-02-19 R. S. Stoica , A. Philippe , P. Gregori , J. Mateu

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

Genomics · Quantitative Biology 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

Haplotyping is the bioinformatics problem of predicting likely haplotypes based on given genotypes. It can be approached using Gusfield's perfect phylogeny haplotyping (PPH) method for which polynomial and linear time algorithms exist.…

Computational Complexity · Computer Science 2009-05-06 Michael Elberfeld

This paper introduces a novel anomaly detection framework that combines the robust statistical principles of density-estimation-based anomaly detection methods with the representation-learning capabilities of deep learning models. The…

Machine Learning · Computer Science 2024-08-15 Joseph Gallego-Mejia , Oscar Bustos-Brinez , Fabio A. González

The path signature is a means of feature generation that can encode nonlinear interactions in the data as well as the usual linear features. It can distinguish the ordering of time-sequenced changes: for example whether or not the…

Quantitative Methods · Quantitative Biology 2020-07-01 P. J. Moore , J. Gallacher , T. J. Lyons

This manuscript delves into the intersection of genomics and phenotypic prediction, focusing on the statistical innovation required to navigate the complexities introduced by noisy covariates and confounders. The primary emphasis is on the…

Methodology · Statistics 2024-11-15 Upama Paul Chowdhury , Ronit Bhattacharjee , Susmita Das , Abhik Ghosh

Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…

Populations and Evolution · Quantitative Biology 2013-08-13 Gilles Guillot

Identifying disease-indicative genes is critical for deciphering disease mechanisms and has attracted significant interest in biomedical research. Spatial transcriptomics offers unprecedented insights for the detection of disease-specific…

Methodology · Statistics 2024-09-05 Qicheng Zhao , Qihuang Zhang

When searching for gene pathways leading to specific disease outcomes, additional information on gene characteristics is often available that may facilitate to differentiate genes related to the disease from irrelevant background when…

Machine Learning · Statistics 2018-09-10 Yunpeng Zhao , Qing Pan , Chengan Du